Incidental Mutation 'IGL01121:Arhgap29'
ID50766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap29
Ensembl Gene ENSMUSG00000039831
Gene NameRho GTPase activating protein 29
SynonymsB130017I01Rik, 6720461J18Rik, C76601, Parg1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01121
Quality Score
Status
Chromosome3
Chromosomal Location121952541-122016753 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122009863 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 764 (E764G)
Ref Sequence ENSEMBL: ENSMUSP00000142945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037958] [ENSMUST00000197155]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037958
AA Change: E764G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: E764G

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:3QWE|A 193 469 5e-41 PDB
Blast:RhoGAP 412 595 9e-84 BLAST
C1 613 659 2.48e-6 SMART
RhoGAP 684 885 1.92e-68 SMART
low complexity region 947 961 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000197155
AA Change: E764G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: E764G

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:3QWE|A 193 469 8e-42 PDB
Blast:RhoGAP 412 595 2e-87 BLAST
C1 613 659 2.48e-6 SMART
RhoGAP 684 780 1.14e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000198914
AA Change: E356G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199550
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik G A 18: 62,755,148 noncoding transcript Het
4930432E11Rik A T 7: 29,574,001 noncoding transcript Het
Alg3 T C 16: 20,610,647 E31G probably damaging Het
Atp5j2 C A 5: 145,184,568 V68L probably benign Het
Birc6 T A 17: 74,631,038 I2645K probably benign Het
Capn11 A G 17: 45,639,132 S369P probably benign Het
Car4 A T 11: 84,964,346 probably null Het
Ccdc185 C T 1: 182,748,657 V156I probably benign Het
Cpsf2 G T 12: 101,988,706 E245D probably damaging Het
Dnah11 T C 12: 118,050,695 D2019G probably benign Het
Dscc1 A G 15: 55,082,325 probably benign Het
Dzip3 T C 16: 48,944,881 D490G probably benign Het
E2f8 G A 7: 48,867,821 Q745* probably null Het
Fat3 T A 9: 15,998,401 T2102S probably benign Het
Fgf7 C T 2: 126,088,232 probably benign Het
Fstl4 T C 11: 52,814,637 F47L probably benign Het
Gm15097 A T X: 149,804,328 R129S possibly damaging Het
Gm4297 C T X: 24,552,615 D200N probably benign Het
Itgb5 G T 16: 33,919,989 D490Y probably benign Het
Kansl1 A G 11: 104,335,596 S912P probably benign Het
Kcnq3 A T 15: 66,005,977 probably benign Het
Kctd6 A G 14: 8,222,656 H166R possibly damaging Het
Kel T C 6: 41,702,409 D140G probably benign Het
Lrif1 C A 3: 106,735,664 S177* probably null Het
Lrp1 A T 10: 127,583,853 C962* probably null Het
Lypd5 A T 7: 24,351,551 Y29F probably benign Het
Mmrn1 A G 6: 60,975,944 D403G possibly damaging Het
Nhsl1 T G 10: 18,511,710 V244G probably damaging Het
Olfr781 T C 10: 129,332,935 I18T probably benign Het
Ptprd A T 4: 75,954,201 probably benign Het
Rcan2 A T 17: 44,017,884 I69L probably damaging Het
Rprd2 A G 3: 95,776,550 L373P probably damaging Het
Slc10a4 T C 5: 73,007,586 C174R probably damaging Het
Tas2r134 C T 2: 51,627,989 T160I probably damaging Het
Tbc1d19 T A 5: 53,897,062 L464* probably null Het
Tmem45a2 C T 16: 57,040,790 D225N possibly damaging Het
Unc79 G A 12: 103,165,631 C2139Y probably damaging Het
Vmn2r101 G T 17: 19,589,674 G241C probably damaging Het
Vmn2r91 T C 17: 18,136,504 V811A possibly damaging Het
Wdr11 T C 7: 129,628,022 Y844H probably benign Het
Wdr70 T C 15: 7,873,174 K656E possibly damaging Het
Zfp579 C A 7: 4,993,247 C555F possibly damaging Het
Other mutations in Arhgap29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Arhgap29 APN 3 122003312 nonsense probably null
IGL01622:Arhgap29 APN 3 121974124 splice site probably benign
IGL01623:Arhgap29 APN 3 121974124 splice site probably benign
IGL01995:Arhgap29 APN 3 122014328 missense probably benign 0.00
IGL02120:Arhgap29 APN 3 122004257 missense probably benign 0.05
IGL02554:Arhgap29 APN 3 121992524 unclassified probably benign
IGL02931:Arhgap29 APN 3 121992860 missense probably benign
IGL02937:Arhgap29 APN 3 121974049 missense probably damaging 0.99
PIT4362001:Arhgap29 UTSW 3 122003212 missense probably benign 0.42
R0022:Arhgap29 UTSW 3 121988937 missense possibly damaging 0.61
R0574:Arhgap29 UTSW 3 122007625 missense probably benign 0.01
R0601:Arhgap29 UTSW 3 121991110 missense probably damaging 1.00
R0639:Arhgap29 UTSW 3 122007641 missense probably damaging 1.00
R0881:Arhgap29 UTSW 3 122014679 missense probably damaging 1.00
R1232:Arhgap29 UTSW 3 122003340 missense probably damaging 1.00
R1295:Arhgap29 UTSW 3 121992395 missense probably benign 0.27
R1296:Arhgap29 UTSW 3 121992395 missense probably benign 0.27
R1403:Arhgap29 UTSW 3 121973929 missense probably damaging 1.00
R1403:Arhgap29 UTSW 3 121973929 missense probably damaging 1.00
R1470:Arhgap29 UTSW 3 121992319 unclassified probably benign
R1710:Arhgap29 UTSW 3 122008080 missense probably damaging 1.00
R1878:Arhgap29 UTSW 3 122011371 missense probably damaging 1.00
R2051:Arhgap29 UTSW 3 121981860 missense probably benign 0.01
R2112:Arhgap29 UTSW 3 122011561 missense probably benign 0.03
R2188:Arhgap29 UTSW 3 121991009 missense probably damaging 1.00
R2240:Arhgap29 UTSW 3 122011453 missense probably benign 0.12
R2420:Arhgap29 UTSW 3 121973980 missense probably benign
R3618:Arhgap29 UTSW 3 121988527 missense possibly damaging 0.62
R4673:Arhgap29 UTSW 3 122014971 missense probably damaging 1.00
R4717:Arhgap29 UTSW 3 122009958 missense possibly damaging 0.82
R5028:Arhgap29 UTSW 3 122010060 critical splice donor site probably null
R5043:Arhgap29 UTSW 3 121974004 missense probably benign 0.00
R5045:Arhgap29 UTSW 3 122002595 missense probably benign 0.28
R5463:Arhgap29 UTSW 3 121988551 missense possibly damaging 0.94
R5495:Arhgap29 UTSW 3 122014929 missense probably damaging 1.00
R5743:Arhgap29 UTSW 3 121981911 missense probably damaging 1.00
R5791:Arhgap29 UTSW 3 122014245 missense probably damaging 0.98
R5896:Arhgap29 UTSW 3 122012087 missense possibly damaging 0.78
R6083:Arhgap29 UTSW 3 121992748 missense probably benign 0.00
R6355:Arhgap29 UTSW 3 122011258 missense possibly damaging 0.46
R6451:Arhgap29 UTSW 3 121993581 missense probably damaging 1.00
R6528:Arhgap29 UTSW 3 122014702 missense probably benign 0.13
R7239:Arhgap29 UTSW 3 121988950 missense probably benign 0.16
R7669:Arhgap29 UTSW 3 121992812 missense probably damaging 1.00
R7807:Arhgap29 UTSW 3 122014332 missense probably benign 0.01
R8045:Arhgap29 UTSW 3 122007562 synonymous silent
R8048:Arhgap29 UTSW 3 121992901 missense probably damaging 1.00
R8165:Arhgap29 UTSW 3 121988573 missense probably damaging 0.98
Posted On2013-06-21